A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511696



Internal ID15851121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:67541848..67543328hg38UCSC Ensembl
Outerchr1:68007531..68009011hg19UCSC Ensembl
Outerchr1:67780119..67781599hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381481
hg191481
hg181481
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626336
Samples1
Known Genes
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511696
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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